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data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome.
High UTX expression is independently associated with a better prognosis in patients with esophageal squamous cell carcinoma (ESCC) and downregulation of UTX increases ESCC cell growth and decreases E-cadherin (Montrer CDH1 Protéines) expression. Our results suggest that UTX may be a novel therapeutic target for patients with ESCC.
Depletion of KDM6A inhibits the expression of SOX9 (Montrer SOX9 Protéines), Col2a1 (Montrer COL2A1 Protéines), ACAN (Montrer ACAN Protéines) and results in increased H3K27me3 and decreased H3K4me3 levels.
Rebalance of Histone h3 (Montrer HIST3H3 Protéines) lysine 27 methylation 3 levels at specific genes through EZH2 (Montrer EZH2 Protéines) inhibitors may be a therapeutic strategy in multiple myeloma cases harboring UTX mutations.
both UTX and UTY function as dose-dependent suppressors of urothelial bladder cancer development
Two novel missense mutations: p.G325A in the KDM6A gene responsible for Kabuki syndrome and p.G1877V in the SCN1A (Montrer SCN1A Protéines) gene responsible for generalized epilepsy with febrile seizures plus were identified using the TruSight One sequencing panel.
inactivating mutations of KDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2 (Montrer EZH2 Protéines).
Study presents a mutation screening of patients with Kabuki syndrome type 1 which identified 208 mutations in KMT2D. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo.
Data show that more mutations in the histone lysine demethylase (Montrer MBD2 Protéines) KDM6A were present in non-invasive tumors from females than males.
Here, we discuss the roles of lysine 27 demethylases, JMJD3 and UTX, in cancer and potential therapeutic avenues targeting these enzymes. Despite a high degree of sequence similarity in the catalytic domain between JMJD3 and UTX, numerous studies revealed surprisingly contrasting roles in cellular reprogramming and cancer, particularly leukemia
Kdm6a expression improved the development of cloned mouse embryos by reducing H3K27me3 and increasing rDNA transcription.
study provides a systematic screening of TSGs in vivo and identifies UTX as an important epigenetic regulator in lung tumorigenesis.
UTX molecular function is in establishing appropriate chromatin structure to regulate crucial neural crest stem-cell signaling pathways.
When JMJD3 levels were decreased by RNA interference, the embryo development rate and quality were improved, but the knockdown of UTX produced the opposite results.
results reveal a previously unknown role of kdm6a in promoting innate IFN-beta (Montrer IFNB1 Protéines) gene transcription at enhancer, in addition to demethylation at promoter
Long-term exposure to atmospheric particulates, PM2.5 up-regulated H3K4 and H3K9 methylation in IL-6 (Montrer IL6 Protéines) and IFN-beta (Montrer IFNB1 Protéines) promoter regions through down-regulating Kdm6a expression. The results suggest that short-term exposure to PM2.5 significantly enhances the survival rate of influenza A-contaminated mice, while long-term PM2.5 inhalation lowers the capacity of pulmonary macrophages to secrete IL-6 (Montrer IL6 Protéines) and IFN-beta (Montrer IFNB1 Protéines).
UTX-MLL4-p300 (Montrer NOTCH1 Protéines) transcriptional regulatory network establishing an "active enhancer landscape" and defines a detailed mechanism for the joint deposition of H3K4me1 and H3K27ac.
These results suggest that the demethylase activity of Jmjd3, but not that of Utx, affects mouse axial patterning in concert with alterations in Hox gene expression.
Utx governs adipogenesis by regulating c-Myc (Montrer MYC Protéines) in a differentiation stage-specific manner
Ectopic expression of KDM6A antagonized TGF-beta (Montrer TGFB1 Protéines)-induced epithelial-mesenchymal transition and cell migration of lung cancer cells through its demethylase (Montrer MBD2 Protéines) activity.
Following knockdown of kmt2d and the two zebrafish paralogs kdm6a and kdm6al, we analyzed morphants for developmental abnormalities in tissues that are affected in individuals with KS, including craniofacial structures, heart and brain
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3.
lysine (K)-specific demethylase 6A
, bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))
, histone demethylase UTX
, lysine-specific demethylase 6A
, ubiquitously transcribed tetratricopeptide repeat protein X-linked
, ubiquitously-transcribed TPR gene on the X chromosome
, ubiquitously-transcribed TPR protein on the X chromosome
, 4lysine (K)-specific demethylase 6A
, ubiquitously transcribed TPR protein on the X chromosome
, ubiquitously transcribed X chromosome tetratricopeptide repeat protein
, ubiquitously transcribed tetratricopeptide repeat gene, X chromosome
, ubiquitously transcribed tetratricopeptide repeat, X chromosome
, ubiqiutous TPR motif protein
, lysine (K)-specific demethylase 6A S homeolog
, lysine demethylase 6A S homeolog
, ubiquitously transcribed tetratricopeptide repeat gene, Y-linked
, ubiquitous TPR motif protein